Niemann-Pick type C (NPC) is an autosomal recessive and congenital neurological disorder characterized by the accumulation of cholesterol and glycosphingolipids. Symptoms include hepatosplenomegaly, vertical supranuclear saccadic palsy, ataxia, dystonia, and dementia. Some cases frequently display narcolepsy-like symptoms, including cataplexy which was reported in 26% of all NPC patients and was more often recorded among late-infantile onset (50%) and juvenile onset (38%) patients. In this current study, we examined CSF orexin levels in the 10 patients of NPC with and without cataplexy, which supports previous findings. Ten patients with NPC were included in the study (5 males and 5 females). NPC diagnosis was biochemically confirmed in all 10 patients, from which 8 patients with NPC1 gene were identified. We compared CSF orexin levels among NPC, narcoleptic and idiopathic hypersomnia patients. Six NPC patients with cataplexy had low or intermediate orexin levels. In 4 cases without cataplexy, their orexin levels were normal. In 5 cases with Miglustat treatment, their symptoms stabilized or improved. For cases without Miglustat treatment, their conditions worsened generally. The CSF orexin levels of NPC patients were significantly higher than those of patients with narcolepsy-cataplexy and lower than those of patients with idiopathic hypersomnia, which was considered as the control group with normal CSF orexin levels. Our study indicates that orexin level measurements can be an early alert of potential NPC. Low or intermediate orexin levels could further decrease due to reduction in the neuronal function in the orexin system, accelerating the patients’ NPC pathophysiology. However with Miglustat treatment, the orexin levels stabilized or improved, along with other general symptoms. Although the circuitry is unclear, this supports that orexin system is indeed involved in narcolepsy-cataplexy in NPC patients. The NPC patients with cataplexy had low or intermediate orexin levels. In the cases without cataplexy, their orexin levels were normal. Our study suggests that orexin measurements can serve as an early alert for potential NPC; furthermore, they could be a marker of therapy monitoring during a treatment.

中文翻译：

---

早期发现伴有瘫痪症和食欲素水平的C型Niemann-pick疾病：使用和不使用Miglustat的连续观察

尼曼-匹克C型（NPC）是常染色体隐性遗传和先天性神经系统疾病，其特征是胆固醇和鞘糖脂的积累。症状包括肝脾肿大，垂直核上眼跳性麻痹，共济失调，肌张力障碍和痴呆。一些病例经常表现出发作性睡病样症状，包括在所有NPC患者中有26％出现瘫痪，在婴儿晚期发作（50％）和青少年发作（38％）患者中更常见。在本研究中，我们检查了10例患有和不患有脑瘫的NPC患者的CSF食欲素水平，这支持了先前的发现。该研究包括十名NPC患者（男5例，女5例）。在所有10例患者中均已生化确认NPC诊断，从中鉴定出8例NPC1基因患者。我们比较了NPC中的CSF食欲素水平，麻醉性和特发性失眠症患者。六名患有脑瘫的NPC患者的食欲素水平较低或中等。在4例无猝死症的患者中，其食欲素水平正常。5例接受Miglustat治疗的患者症状稳定或改善。对于未接受Miglustat治疗的患者，其病情通常会恶化。NPC患者的CSF食欲素水平显着高于发作性睡病的患者，而低于特发性失眠的患者，这被认为是CSF食欲素水平正常的对照组。我们的研究表明，食欲素水平测量可以作为潜在NPC的早期警报。由于食欲素系统中神经元功能的降低，食欲素的低或中等水平可能会进一步降低，从而加速了患者的NPC病理生理。但是，使用Miglustat治疗后，食欲素水平与其他一般症状一样稳定或改善。尽管电路尚不清楚，但这支持了orexin系统确实参与了NPC患者的发作性睡病发作。患有脑瘫的NPC患者的食欲素水平较低或中等。在没有脑瘫的情况下，其食欲素水平正常。我们的研究表明，食欲素的测量可以作为潜在NPC的预警。此外，它们可能是治疗期间进行治疗监测的标志。在没有脑瘫的情况下，其食欲素水平正常。我们的研究表明，食欲素的测量可以作为潜在NPC的预警。此外，它们可能是治疗期间进行治疗监测的标志。在没有脑瘫的情况下，其食欲素水平正常。我们的研究表明，食欲素的测量可以作为潜在NPC的预警。此外，它们可能是治疗期间进行治疗监测的标志。